ClinVar Miner

List of variants reported as likely pathogenic for Dilated cardiomyopathy 1S

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) rs397516089
NM_000257.4(MYH7):c.1559G>T (p.Cys520Phe)
NM_000257.4(MYH7):c.1858_1859del (p.Leu620fs) rs1566533919
NM_000257.4(MYH7):c.2114G>A (p.Cys705Tyr) rs1555337916
NM_000257.4(MYH7):c.2642T>G (p.Leu881Arg) rs1566531303
NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu) rs397516160
NM_000257.4(MYH7):c.2761G>A (p.Glu921Lys) rs730880759
NM_000257.4(MYH7):c.5390T>C (p.Leu1797Pro) rs1114167322
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_001134363.3(RBM20):c.1904C>G (p.Ser635Cys) rs1114167331
NM_001267550.2(TTN):c.12438_12448del (p.Ser4147fs) rs1553939749
NM_001267550.2(TTN):c.42909_42910del (p.Cys14303fs) rs1114167333
NM_001267550.2(TTN):c.51436+1G>A rs761807131
NM_001267550.2(TTN):c.54768del (p.Ser18258fs) rs1114167335
NM_001267550.2(TTN):c.61682C>G (p.Ser20561Ter) rs1114167324
NM_001267550.2(TTN):c.65035_65036del (p.Ala21679fs) rs1114167323
NM_001267550.2(TTN):c.87355del (p.Ala29119fs) rs794729356
NM_001927.4(DES):c.407T>C (p.Leu136Pro) rs397516695
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) rs267607124
NM_004572.3(PKP2):c.2035C>T (p.His679Tyr) rs757922359
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.